Summary

Medullary cystic kidney disease (MCKD) is an inherited condition that causes the growth of abnormal blisters of fluid (cysts) in the kidneys.

MCKD often causes kidney failure in people between 20 and 50 years of age.

There is no cure – treatment aims to manage the symptoms and reduce the risk of complications.

Medullary cystic kidney disease (MCKD) is an inherited condition. It belongs to a group of diseases known as cystic kidney disease. Genetic changes cause abnormal blisters of fluid (cysts) to grow in the kidneys.

The cysts develop in the inner part (medulla) of the kidney. Scar tissue forms and the kidneys shrink as the outer section (cortex) thins. The kidneys lose their ability to remove enough fluid from filtered wastes and pass great amounts of undiluted urine. There is no cure. This condition often causes kidney failure in people between 20 and 50 years of age.

Symptoms of MCKD

Symptoms usually begin before the age of 20, but they vary greatly. A few people do not have any symptoms until much later in life.

Symptoms of MCKD may include:

excessive urination, caused by the reduced ability of the diseased kidneys to respond to antidiuretic (fluid-holding) hormones

getting up in the night to urinate

low blood pressure

unexplained weight loss

generally feeling unwell

nausea and vomiting

headache

gout

skin changes, such as pale or yellowish skin tones and easy bruising

muscle cramps or twitches

retarded growth in children.

Complications of MCKD

Some of the complications associated with MCKD include:

anaemia

ulcers and bleeding of the gastrointestinal tract

loss of bone density and increased risk of fractures

infertility

end-stage kidney disease

high blood pressure (caused by the failing kidneys)

heart problems, including pericarditis or congestive heart failure

haemorrhage (excessive bleeding)

changes in glucose metabolism

infertility

menstrual problems

miscarriage

peripheral neuropathy (damage to the nerves of the peripheral nervous system)

easy bruising (which can signify platelet dysfunction)

skin colour changes.

Pattern of inheritance of MCKD

MCKD is an inherited disease transmitted in an 'autosomal dominant' pattern, which means that the condition will occur even if the genetic changes are inherited from only one parent. The condition can occasionally occur when there is no family history of the disease.

The childhood disease 'juvenile nephronophthisis' is similar to MCKD, but usually occurs in young children and is due to an inherited recessive genetic condition. This means that the child must receive the genetic changes from both parents in order to develop the condition.

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This page has been produced in consultation with and approved by:
Kidney Health Australia

Last updated:
June 2019

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